Canonical Allele Identifier: CA6808964
Gene: RBM19 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.113955192T>G
GRCh37 chr12:g.114392997T>G
Revel Score:
ENST00000545145 0.028
ENST00000392561 0.028
ENST00000261741 (MANE Select) 0.028
gnomAD v2:
12:114392997 T / G
gnomAD v3:
12:113955192 T / G
gnomAD v4:
chr12-113955192-T-G
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV004192744
ClinVar Variation:
2354264
dbSNP:
200727713
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.113955192T>G , CM000674.2:g.113955192T>G GRCh38
NC_000012.11:g.114392997T>G , CM000674.1:g.114392997T>G GRCh37
NC_000012.10:g.112877380T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261741.10:c.860A>C MANE Select ENSP00000261741.5:p.Gln287Pro
ENST00000261741.9:c.860A>C ENSP00000261741.5:p.Gln287Pro
ENST00000392561.7:c.860A>C ENSP00000376344.3:p.Gln287Pro
ENST00000545145.6:c.860A>C ENSP00000442053.2:p.Gln287Pro
NM_001146698.1:c.860A>C NP_001140170.1:p.Gln287Pro
NM_001146699.1:c.860A>C NP_001140171.1:p.Gln287Pro
NM_016196.3:c.860A>C NP_057280.2:p.Gln287Pro
XM_011539038.1:c.860A>C XP_011537340.1:p.Gln287Pro
XR_944848.1:n.977A>C
XM_017020280.1:c.860A>C XP_016875769.1:p.Gln287Pro
XM_017020281.1:c.860A>C XP_016875770.1:p.Gln287Pro
XR_001748932.1:n.1004A>C
XR_944848.2:n.1004A>C
NM_016196.4:c.860A>C MANE Select NP_057280.2:p.Gln287Pro
NM_001146698.2:c.860A>C NP_001140170.1:p.Gln287Pro
NM_001146699.2:c.860A>C NP_001140171.1:p.Gln287Pro
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